TBC1D20 (TBC1 domain family member 20) - Rat Genome Database

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Gene: TBC1D20 (TBC1 domain family member 20) Chlorocebus sabaeus
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Symbol: TBC1D20
Name: TBC1 domain family member 20
RGD ID: 18581277
Description: ENCODES a protein that exhibits GTPase activator activity (inferred); small GTPase binding (inferred); INVOLVED IN acrosome assembly (ortholog); camera-type eye development (ortholog); Golgi organization (ortholog); ASSOCIATED WITH Brown-Vialetto-Van Laere syndrome 1 (ortholog); genetic disease (ortholog); Neurodevelopmental Disorders (ortholog); FOUND IN endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred); Golgi membrane (inferred)
Type: protein-coding
RefSeq Status: MODEL
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: ChlSab1.1 - Green Monkey 1.1 Assembly
Position:
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1256,065,975 - 56,093,521 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl256,066,042 - 56,094,333 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660787,861,563 - 7,886,879 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
TBC1D20Green MonkeyBrown-Vialetto-Van Laere syndrome 1  ISOTBC1D20 (Homo sapiens)8554872ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1ClinVarPMID:20206331 more ...
TBC1D20Green Monkeygenetic disease  ISOTBC1D20 (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25741868 and PMID:28492532
TBC1D20Green MonkeyNeurodevelopmental Disorders  ISOTBC1D20 (Homo sapiens)8554872ClinVar Annotator: match by term: Neurodevelopmental disorderClinVarPMID:25741868
TBC1D20Green MonkeyPolyglucosan Body Myopathy 1 with or without Immunodeficiency  ISOTBC1D20 (Homo sapiens)8554872ClinVar more ...ClinVarPMID:23104095 more ...
TBC1D20Green MonkeyWarburg micro syndrome 4  ISOTBC1D20 (Homo sapiens)8554872ClinVar more ...ClinVarPMID:24239381 more ...
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
TBC1D20Green MonkeyWarburg micro syndrome  ISOTBC1D20 (Homo sapiens)9068941CTD Direct Evidence: marker/mechanismCTD 
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
TBC1D20Green MonkeyWarburg micro syndrome 4  ISOTBC1D20 (Homo sapiens)7240710 OMIM 


Biological Process
1 to 20 of 20 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
TBC1D20Green Monkeyacrosome assembly acts_upstream_of_or_withinISOMGI:18566849068941 PMID:24239381MGIPMID:24239381
TBC1D20Green Monkeycamera-type eye development acts_upstream_of_or_withinISOMGI:18566849068941 PMID:14757819MGIPMID:14757819
TBC1D20Green MonkeyCOPII-coated vesicle cargo loading involved_inIEAUniProtKB:Q96BZ9 and ensembl:ENSP00000346139150520179 EnsemblGO_REF:0000107
TBC1D20Green Monkeyendoplasmic reticulum to Golgi vesicle-mediated transport involved_inIEAPANTHER:PTN000467559150520179 TreeGrafterGO_REF:0000118
TBC1D20Green Monkeyendoplasmic reticulum to Golgi vesicle-mediated transport involved_inIEAUniProtKB:Q96BZ9 and ensembl:ENSP00000346139150520179 EnsemblGO_REF:0000107
TBC1D20Green MonkeyGolgi organization involved_inIEAUniProtKB:Q96BZ9 and ensembl:ENSP00000346139150520179 EnsemblGO_REF:0000107
TBC1D20Green MonkeyGolgi organization acts_upstream_of_or_withinISOMGI:18566849068941 PMID:24239381MGIPMID:24239381
TBC1D20Green Monkeylens development in camera-type eye acts_upstream_of_or_withinISOMGI:18566849068941 PMID:24239381MGIPMID:24239381
TBC1D20Green Monkeylens fiber cell morphogenesis acts_upstream_of_or_withinISOMGI:18566849068941 PMID:24239381MGIPMID:24239381
TBC1D20Green Monkeylipid droplet organization acts_upstream_of_or_withinISOMGI:18566849068941 PMID:24239381MGIPMID:24239381
TBC1D20Green Monkeymale gonad development acts_upstream_of_or_withinISOMGI:18566849068941 PMID:24239381MGIPMID:24239381
TBC1D20Green Monkeypositive regulation by host of viral genome replication involved_inIEAUniProtKB:Q96BZ9 and ensembl:ENSP00000346139150520179 EnsemblGO_REF:0000107
TBC1D20Green Monkeypositive regulation by virus of viral protein levels in host cell involved_inIEAUniProtKB:Q96BZ9 and ensembl:ENSP00000346139150520179 EnsemblGO_REF:0000107
TBC1D20Green Monkeypositive regulation of ER to Golgi vesicle-mediated transport involved_inIEAUniProtKB:Q96BZ9 and ensembl:ENSP00000346139150520179 EnsemblGO_REF:0000107
TBC1D20Green Monkeypositive regulation of GTPase activity involved_inISOTBC1D20 (Homo sapiens)9068941 PMID:17684057UniProtPMID:17684057
TBC1D20Green Monkeyregulation of cilium assembly NOT|involved_inISOTBC1D20 (Homo sapiens)9068941 PMID:17646400UniProtPMID:17646400
TBC1D20Green Monkeyseminiferous tubule development acts_upstream_of_or_withinISOMGI:18566849068941 PMID:24239381MGIPMID:24239381
TBC1D20Green Monkeyspermatogenesis acts_upstream_of_or_withinISOMGI:18566849068941 PMID:14757819 and PMID:24239381MGIPMID:14757819 and PMID:24239381
TBC1D20Green Monkeyvesicle-mediated transport involved_inIEAInterPro:IPR045913150520179 InterProGO_REF:0000002
TBC1D20Green Monkeyvirion assembly involved_inIEAUniProtKB:Q96BZ9 and ensembl:ENSP00000346139150520179 EnsemblGO_REF:0000107
1 to 20 of 20 rows

Cellular Component

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
TBC1D20Green Monkeyendoplasmic reticulum located_inIEAUniProtKB:Q96BZ9 and ensembl:ENSP00000346139150520179 EnsemblGO_REF:0000107
TBC1D20Green Monkeyendoplasmic reticulum membrane located_inIEAPANTHER:PTN000467559150520179 TreeGrafterGO_REF:0000118
TBC1D20Green Monkeyendoplasmic reticulum membrane located_inIEAUniProtKB:Q96BZ9 and ensembl:ENSP00000346139150520179 EnsemblGO_REF:0000107
TBC1D20Green MonkeyGolgi membrane located_inIEAUniProtKB:Q96BZ9 and ensembl:ENSP00000346139150520179 EnsemblGO_REF:0000107
TBC1D20Green Monkeymembrane located_inIEAUniProtKB-KW:KW-0472150520179 UniProtGO_REF:0000043
TBC1D20Green Monkeynuclear membrane located_inIEAUniProtKB:Q96BZ9 and ensembl:ENSP00000346139150520179 EnsemblGO_REF:0000107

Molecular Function

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
TBC1D20Green MonkeyGTPase activator activity enablesIEAUniProtKB-KW:KW-0343150520179 UniProtGO_REF:0000043
TBC1D20Green MonkeyGTPase activator activity enablesIEAUniProtKB:Q96BZ9 and ensembl:ENSP00000346139150520179 EnsemblGO_REF:0000107
TBC1D20Green MonkeyGTPase activator activity enablesIEAInterPro:IPR045913150520179 InterProGO_REF:0000002
TBC1D20Green MonkeyGTPase activator activity enablesIEAPANTHER:PTN000467559150520179 TreeGrafterGO_REF:0000118
TBC1D20Green Monkeyprotein binding enablesISOUniProtKB:Q167999068941 PMID:17684057UniProtPMID:17684057
TBC1D20Green Monkeyprotein binding enablesISOUniProtKB:P27958-PRO_00000375769068941 PMID:17686842 and PMID:22491470AgBasePMID:17686842 and PMID:22491470
TBC1D20Green Monkeyprotein binding enablesISOUniProtKB:P55056 more ...9068941 PMID:32296183IntActPMID:32296183
TBC1D20Green Monkeysmall GTPase binding enablesIEAUniProtKB:Q96BZ9 and ensembl:ENSP00000346139150520179 EnsemblGO_REF:0000107

PMID:30032202  



TBC1D20
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1256,065,975 - 56,093,521 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl256,066,042 - 56,094,333 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660787,861,563 - 7,886,879 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
TBC1D20
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3820435,480 - 462,533 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl20423,596 - 462,566 (-)EnsemblGRCh38hg38GRCh38
GRCh3720416,124 - 443,177 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3620364,124 - 391,187 (-)NCBINCBI36Build 36hg18NCBI36
Build 3420364,125 - 391,147NCBI
Celera20510,958 - 538,015 (-)NCBICelera
Cytogenetic Map20p13NCBI
HuRef20367,459 - 394,130 (-)NCBIHuRef
CHM1_120416,126 - 443,204 (-)NCBICHM1_1
T2T-CHM13v2.020479,231 - 506,260 (-)NCBIT2T-CHM13v2.0
Tbc1d20
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392152,135,745 - 152,155,914 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2152,135,748 - 152,155,916 (+)EnsemblGRCm39 Ensembl
GRCm382152,293,826 - 152,313,994 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2152,293,828 - 152,313,996 (+)EnsemblGRCm38mm10GRCm38
MGSCv372152,119,608 - 152,138,326 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362151,985,313 - 152,004,031 (+)NCBIMGSCv36mm8
Celera2158,107,984 - 158,126,733 (+)NCBICelera
Cytogenetic Map2G3NCBI
cM Map274.83NCBI
Tbc1d20
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83161,228,699 - 161,247,319 (+)NCBIGRCr8
mRatBN7.23140,768,537 - 140,787,010 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3140,768,537 - 140,785,121 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3144,673,328 - 144,690,001 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03153,257,161 - 153,273,834 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03150,997,769 - 151,014,273 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03147,772,006 - 147,790,946 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3147,772,165 - 147,789,158 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03154,120,296 - 154,137,199 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43142,623,713 - 142,640,197 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13142,529,285 - 142,545,770 (+)NCBI
Celera3139,520,860 - 139,537,468 (+)NCBICelera
Cytogenetic Map3q41NCBI
Tbc1d20
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955597291,541 - 314,292 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955597291,541 - 313,799 (-)NCBIChiLan1.0ChiLan1.0
TBC1D20
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2211,524,951 - 1,551,103 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1201,521,783 - 1,547,931 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v020644,646 - 670,860 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.120414,066 - 429,189 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl20414,066 - 431,032 (-)Ensemblpanpan1.1panPan2
TBC1D20
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12420,400,647 - 20,419,652 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2420,400,791 - 20,419,655 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2420,054,600 - 20,073,599 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02421,093,909 - 21,112,923 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2421,093,893 - 21,112,920 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12420,368,969 - 20,388,211 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02420,475,176 - 20,494,176 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02420,905,480 - 20,924,706 (+)NCBIUU_Cfam_GSD_1.0
Tbc1d20
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640169,603,422 - 169,624,377 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648518,034,732 - 18,055,767 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648518,034,776 - 18,055,741 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TBC1D20
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1734,760,347 - 34,779,701 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11734,760,379 - 34,778,301 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21739,584,314 - 39,589,765 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Tbc1d20
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247411,525,569 - 1,550,806 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247411,525,739 - 1,550,774 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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Variants in TBC1D20
503 total Variants



ectoderm
endocrine system
hemolymphoid system
mesenchyme
mesoderm
nervous system
reproductive system
76 36 20 36 36 60 20


RefSeq Transcripts XM_007963086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_007963095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide JACDXN010000046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENSCSAT00000008546   ⟹   ENSCSAP00000006685
Type: CODING
Position:
Green Monkey AssemblyChrPosition (strand)Source
ChlSab1.1 Ensembl256,066,042 - 56,094,333 (+)Ensembl
RefSeq Acc Id: XM_007963086   ⟹   XP_007961277
Type: CODING
Position:
Green Monkey AssemblyChrPosition (strand)Source
ChlSab1.1256,065,975 - 56,093,521 (+)NCBI
Vero_WHO_p1.0NW_0236660787,861,563 - 7,886,879 (-)NCBI
Sequence:
Protein RefSeqs XP_007961277 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSCSAP00000006685
  ENSCSAP00000006685.1
RefSeq Acc Id: XP_007961277   ⟸   XM_007963086
- UniProtKB: A0A0D9RDJ6 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSCSAP00000006685   ⟸   ENSCSAT00000008546



1 to 16 of 16 rows
Database
Acc Id
Source(s)
Ensembl Genes ENSCSAG00000010456 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSCSAT00000008546.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.8.1310 UniProtKB/TrEMBL
  Ypt/Rab-GAP domain of gyp1p, domain 3 UniProtKB/TrEMBL
InterPro Rab-GTPase-TBC_dom UniProtKB/TrEMBL
  Rab-GTPase_TBC_sf UniProtKB/TrEMBL
  TBC20/Gyp8-like UniProtKB/TrEMBL
KEGG Report csab:103216010 UniProtKB/TrEMBL
NCBI Gene TBC1D20 ENTREZGENE
PANTHER PTHR20913 UniProtKB/TrEMBL
  TBC1 DOMAIN FAMILY MEMBER 20 UniProtKB/TrEMBL
Pfam RabGAP-TBC UniProtKB/TrEMBL
PROSITE TBC_RABGAP UniProtKB/TrEMBL
SMART TBC UniProtKB/TrEMBL
Superfamily-SCOP SSF47923 UniProtKB/TrEMBL
UniProt A0A0D9RDJ6 ENTREZGENE, UniProtKB/TrEMBL
1 to 16 of 16 rows